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Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac067
Abstract: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) cause CDKL5 deficiency disorder (CDD), a neurodevelopmental disease characterized by severe infantile seizures and intellectual disability. The absence of CDKL5 in mice causes defective spine maturation that…
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Keywords:
pregnenolone methyl;
cdkl5;
methyl ether;
spine maturation ... See more keywords